Medical Genetics: Getting Genetic Services for Your Child

Medical Genetics: Getting Genetic Services for Your Child

What are genetic services?

Genetic services are programs that help support families and children with genetic disorders. Genetic services can:

Give you information about your family’s genetic risk factors

Diagnose a genetic disorder, by physical exam or genetic testing

Tell you how or why a disorder occurred, and the chance for it to occur again in the family

Give you choices for managing and treating a disorder

Connect you with support groups for a disorder

Connect you with other families with children who have a disorder

When does a child need genetic services?

You can seek genetic services for a child in many cases. You can find your child’s risk for problems, or have a condition diagnosed. The many types of genetic issues include:

Birth defects

Chronic diseases

Developmental problems

Sensory deficits

Abnormal physical features

You can learn more about the types of these genetic issues below.

Birth defects

Types of birth defects include:

Cataracts. This is a clouding over the lens of the eye.

Cleft lip or cleft palate. These are conditions that cause a gap in the upper lip, upper palate, or both.

Congenital heart disease. This is a condition in which the heart or blood vessels near the heart don’t develop normally before birth.

Contractures. This is an abnormal shortening of muscles.

Diaphragmatic hernia. This is a hole in the diaphragm. The diaphragm is the thin muscle that divides the chest cavity from the abdominal cavity. Some organs that are normally in the abdomen may move up into the chest cavity through this hole.

Genital malformations. These are problems with the sex organs (genitals).

Glaucoma. This is an increase in pressure in the eye. It can lead to optic nerve damage and loss of eyesight.

Misshapen skull. The skull may be large or small, or have an abnormal shape.

Missing or incomplete appendages. This includes fingers, toes, arms, or legs.

Neural tube defects. These are problems with part of the spine forming open instead of closed. Spina bifida is a type of neural tube defect.

Chronic diseases

Types of chronic diseases include:

Bleeding disorders

Childhood cancers

Kidney or urinary tract disease

Slow growth or short stature

Cystic fibrosis. This is a condition that causes high amounts of mucus in the lungs. It also causes and problems with how the pancreas works and problems with absorbing food.

Sickle cell disease. This is a condition that causes abnormal hemoglobin in blood cells. It leads to infections and organ damage.

Thalassemia. This is a blood disorder that causes anemia because the body doesn’t make enough hemoglobin.

Developmental problems

Types of developmental problems include:

Autism. This is a disorder that causes problems with social interaction and communication.

Attention-deficit/hyperactivity disorder. This causes problems with attention and hyperactivity.

Developmental delay

Failure to thrive. This means a child who doesn’t grow normally.

Learning disability. This can cause problems with language, coordination, self-control, or attention.

Loss of developmental skills

Low muscle tone

Mental illness

Intellectual disability

Speech problems

Seizures

Sensory deficits

Types of sensory deficits include:

Extreme farsightedness (hyperopia), where nearby objects are out of focus

Extreme nearsightedness (myopia), where distant objects are out of focus

Hearing loss

Retinal or other visual problems

Abnormal physical features

Types of abnormal physical features include:

Ear abnormalities

Unusually shaped eyes

Different colored eyes

Facial features that are unusual or are very different from other family members

Brittle or sparse hair

Excessive body hair

White patches of hair

Large or small tongue

Misshapen teeth

Missing or extra teeth

Loose or stiff joints

Unusually tall or short stature

Webbing between fingers or toes

Excessive skin

Unusual birthmarks

Increased or decreased sweating

Unusual body odor

Finding genetic services

Genetic services are often found in large hospitals or medical centers. Talk with your healthcare provider. He or she can refer you to a medical facility near you. You may also want to consult with your health insurance provider. You can find more information from these resources:

Disclaimer:This information is not intended to substitute or replace the professional medical advice you receive from your child's physician. The content provided on this page is for informational purposes only, and was not designed to diagnose or treat a health problem or disease. Please consult your child's physician with any questions or concerns you may have regarding a medical condition.